Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000995	HP:0000995	Melanocytic nevus	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	54
HP:0000995	HP:0000995	Melanocytic nevus	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	54
HP:0000995	HP:0000995	Melanocytic nevus	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000995	HP:0000995	Melanocytic nevus	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	276
HP:0000995	HP:0000995	Melanocytic nevus	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	317
HP:0000995	HP:0000995	Melanocytic nevus	0	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration	HP:0040283 - Occasional	87
HP:0000995	HP:0000995	Melanocytic nevus	0	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome	HP:0040283 - Occasional	52
HP:0000995	HP:0000995	Melanocytic nevus	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	749
HP:0000995	HP:0000995	Melanocytic nevus	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	30
HP:0000995	HP:0000995	Melanocytic nevus	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0000995	HP:0000995	Melanocytic nevus	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	106
HP:0000995	HP:0000995	Melanocytic nevus	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	54
HP:0000995	HP:0000995	Melanocytic nevus	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	158
HP:0000995	HP:0000995	Melanocytic nevus	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	83
HP:0000995	HP:0000995	Melanocytic nevus	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040283 - Occasional	12
HP:0000995	HP:0000995	Melanocytic nevus	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0000995	HP:0000995	Melanocytic nevus	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0000995	HP:0000995	Melanocytic nevus	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040283 - Occasional	175
HP:0000995	HP:0000995	Melanocytic nevus	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent	175
HP:0000995	HP:0000995	Melanocytic nevus	0	FGFR3 CL E G H	2261	3690	OMIM:612247	Crouzon syndrome with acanthosis nigricans	.	145
HP:0000995	HP:0000995	Melanocytic nevus	0	FGFR3 CL E G H	2261	3690	OMIM:162900	Epidermal nevus, somatic	.	145
HP:0000995	HP:0000995	Melanocytic nevus	0	FKBP10 CL E G H	60681	18169	ORPHA:1149	Kuskokwim syndrome	HP:0040283 - Occasional	61
HP:0000995	HP:0000995	Melanocytic nevus	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.	121
HP:0000995	HP:0000995	Melanocytic nevus	0	HRAS CL E G H	3265	5173	OMIM:162900	Epidermal nevus, somatic	.	113
HP:0000995	HP:0000995	Melanocytic nevus	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	113
HP:0000995	HP:0000995	Melanocytic nevus	0	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital		113
HP:0000995	HP:0000995	Melanocytic nevus	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0000995	HP:0000995	Melanocytic nevus	0	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies	.	9
HP:0000995	HP:0000995	Melanocytic nevus	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0000995	HP:0000995	Melanocytic nevus	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	196
HP:0000995	HP:0000995	Melanocytic nevus	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	196
HP:0000995	HP:0000995	Melanocytic nevus	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	43
HP:0000995	HP:0000995	Melanocytic nevus	0	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus		124
HP:0000995	HP:0000995	Melanocytic nevus	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2		124
HP:0000995	HP:0000995	Melanocytic nevus	0	MPL CL E G H	4352	7217	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040282 - Frequent	97
HP:0000995	HP:0000995	Melanocytic nevus	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0000995	HP:0000995	Melanocytic nevus	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0000995	HP:0000995	Melanocytic nevus	0	NRAS CL E G H	4893	7989	OMIM:162900	Epidermal nevus, somatic	.	102
HP:0000995	HP:0000995	Melanocytic nevus	0	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus		102
HP:0000995	HP:0000995	Melanocytic nevus	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	102
HP:0000995	HP:0000995	Melanocytic nevus	0	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital		102
HP:0000995	HP:0000995	Melanocytic nevus	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0000995	HP:0000995	Melanocytic nevus	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	102
HP:0000995	HP:0000995	Melanocytic nevus	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2		121
HP:0000995	HP:0000995	Melanocytic nevus	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040283 - Occasional	113
HP:0000995	HP:0000995	Melanocytic nevus	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	162
HP:0000995	HP:0000995	Melanocytic nevus	0	PIK3CA CL E G H	5290	8975	OMIM:162900	Epidermal nevus, somatic	.	162
HP:0000995	HP:0000995	Melanocytic nevus	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040283 - Occasional	134
HP:0000995	HP:0000995	Melanocytic nevus	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.	134
HP:0000995	HP:0000995	Melanocytic nevus	0	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent	665
HP:0000995	HP:0000995	Melanocytic nevus	0	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent	40
HP:0000995	HP:0000995	Melanocytic nevus	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	948
HP:0000995	HP:0000995	Melanocytic nevus	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	948
HP:0000995	HP:0000995	Melanocytic nevus	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	291
HP:0000995	HP:0000995	Melanocytic nevus	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	291
HP:0000995	HP:0000995	Melanocytic nevus	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	212
HP:0000995	HP:0000995	Melanocytic nevus	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	212
HP:0000995	HP:0000995	Melanocytic nevus	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	3
HP:0000995	HP:0000995	Melanocytic nevus	0	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.	1
HP:0000995	HP:0000995	Melanocytic nevus	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome		1
HP:0000995	HP:0000995	Melanocytic nevus	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	39
HP:0000995	HP:0000995	Melanocytic nevus	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0000995	HP:0000995	Melanocytic nevus	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	1
HP:0000995	HP:0000995	Melanocytic nevus	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	237
HP:0000995	HP:0000995	Melanocytic nevus	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	147
HP:0000995	HP:0000995	Melanocytic nevus	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	129
HP:0000995	HP:0000995	Melanocytic nevus	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	60
HP:0000995	HP:0000995	Melanocytic nevus	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	315
HP:0000995	HP:0000995	Melanocytic nevus	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	30
HP:0000995	HP:0000995	Melanocytic nevus	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0000995	HP:0000995	Melanocytic nevus	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000995	HP:0000995	Melanocytic nevus	0	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent	124
HP:0000995	HP:0000995	Melanocytic nevus	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0000995	HP:0000995	Melanocytic nevus	0	THPO CL E G H	7066	11795	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040282 - Frequent	23
HP:0000995	HP:0000995	Melanocytic nevus	0	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease	HP:0040283 - Occasional	72
HP:0000995	HP:0000995	Melanocytic nevus	0	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease	HP:0040283 - Occasional	44
HP:0000995	HP:0000995	Melanocytic nevus	0	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040281 - Very frequent	140
HP:0000995	HP:0000995	Melanocytic nevus	0	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B	HP:0040282 - Frequent	146
HP:0000995	HP:0000995	Melanocytic nevus	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0000995	HP:0000995	Melanocytic nevus	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	34
HP:0000995	HP:0000995	Melanocytic nevus	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	86
HP:0000995	HP:0005606	Hyperpigmented nevi and streak	1	CL E G H
HP:0000995	HP:0005600	Congenital giant melanocytic nevus	1	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.	113
HP:0000995	HP:0005600	Congenital giant melanocytic nevus	1	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus	HP:0040281 - Very frequent	124
HP:0000995	HP:0007481	Hyperpigmented nevi	1	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040284 - Very rare	124
HP:0000995	HP:0005600	Congenital giant melanocytic nevus	1	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus	HP:0040281 - Very frequent	102
HP:0000995	HP:0005600	Congenital giant melanocytic nevus	1	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.	102
HP:0000995	HP:0005603	Numerous congenital melanocytic nevi	1	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	.	102
HP:0000995	HP:0007481	Hyperpigmented nevi	1	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040284 - Very rare	121
HP:0000995	HP:0007481	Hyperpigmented nevi	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent	1